Canonical Allele Identifier: CA460580574

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 557881
• ClinVar RCV Id: RCV000674079 ; RCV001868277
• dbSNP Id: rs1298170960
• gnomAD v2: 8-43054584-CCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA-C
• gnomAD v3: 8-43199441-CCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA-C
• gnomAD v4: 8-43199441-CCCTTTCAGTGGAAGCTGAAGGACAACCAGTCCCA-C
• MyVariant Identifiers: chr8:g.43054585_43054618del (hg19) ; chr8:g.43199443_43199476del (hg38) ; chr8:g.43199442_43199475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199443_43199476del , CM000670.2:g.43199443_43199476del	GRCh38
NC_000008.10:g.43054586_43054619del , CM000670.1:g.43054586_43054619del	GRCh37
NC_000008.9:g.43173743_43173776del	NCBI36
NG_009552.1:g.63995_64028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1782_1815del MANE Select	ENSP00000368965.4:p.Phe595ArgfsTer4
ENST00000379644.8:c.1782_1815del	ENSP00000368965.4:p.Phe595ArgfsTer4
ENST00000519705.1:n.1098_1131del
ENST00000521576.1:c.933_966del	ENSP00000429029.1:p.Phe312ArgfsTer4
NM_152419.2:c.1782_1815del	NP_689632.2:p.Phe595ArgfsTer4
XM_005273409.1:c.1893_1926del	XP_005273466.1:p.Phe632ArgfsTer4
XM_005273410.1:c.1869_1902del	XP_005273467.1:p.Phe624ArgfsTer4
XM_005273411.1:c.1701_1734del	XP_005273468.1:p.Phe568ArgfsTer4
NM_001363227.1:c.1869_1902del	NP_001350156.1:p.Phe624ArgfsTer4
NM_001363228.1:c.1590_1623del	NP_001350157.1:p.Phe531ArgfsTer4
NM_001363229.1:c.918_951del	NP_001350158.1:p.Phe307ArgfsTer4
NM_152419.3:c.1782_1815del MANE Select	NP_689632.2:p.Phe595ArgfsTer4
NM_001363227.2:c.1869_1902del	NP_001350156.1:p.Phe624ArgfsTer4
NM_001363228.2:c.1590_1623del	NP_001350157.1:p.Phe531ArgfsTer4
NM_001363229.2:c.918_951del	NP_001350158.1:p.Phe307ArgfsTer4